Neuro-Ophthalmic Presentation of Steroid 5a-Reductase Type 3 Congenital Disorder of Glycosylation: A Case of Monozygotic Twins

Key Points

• Neuro-ophthalmic symptoms were identified in both monozygotic twins, highlighting a shared clinical presentation.
• Both twins exhibited steroid 5a-reductase type 3 congenital disorder of glycosylation, revealing genetic links.
• Detailed clinical examination and genetic analysis confirm the disorder, underscoring its complexities in diagnosis.
• Findings emphasize the need for awareness of neuro-ophthalmic manifestations in glycosylation disorders.